NIPBL, NIPBL cohesin loading factor, 25836

N. diseases: 225; N. variants: 270
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior
0.110 Biomarker phenotype BEFREE Self-injurious behavior is more frequent and more severe in the NIPBL group. 28548707 2017
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior
0.110 Biomarker phenotype HPO